ClinVar Miner

Submissions for variant NM_013432.5(TONSL):c.2215A>T (p.Ser739Cys)

gnomAD frequency: 0.00001  dbSNP: rs544190218
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001885751 SCV002143336 uncertain significance not provided 2023-08-30 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 739 of the TONSL protein (p.Ser739Cys). This variant is present in population databases (rs544190218, gnomAD 0.04%). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TONSL protein function. ClinVar contains an entry for this variant (Variation ID: 1376170). This variant has not been reported in the literature in individuals affected with TONSL-related conditions.
Ambry Genetics RCV002552766 SCV003755004 uncertain significance Inborn genetic diseases 2021-07-20 criteria provided, single submitter clinical testing The c.2215A>T (p.S739C) alteration is located in exon 17 (coding exon 17) of the TONSL gene. This alteration results from a A to T substitution at nucleotide position 2215, causing the serine (S) at amino acid position 739 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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